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Links from MedGen

Items: 1 to 100 of 177

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NECAP1
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 21
+1 more
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(Q274H)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
LOC126861440, NECAP1
(K14*)
Microsatellite
(nonsense +1 more)
Developmental and epileptic encephalopathy, 21
GLikely pathogenic
C3AR1, NECAP1
Duplication
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(A81S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(R113W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 21
GUncertain significance
LOC126861440, NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GUncertain significance
LOC126861440, NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(G222S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(R113Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(G79D)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(G172D)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(P234S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
LOC126861440, NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(M143V)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
LOC126861440, NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
LOC126861440, NECAP1
(G30R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(G181A)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
LOC126861440, NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
LOC126861440, NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
LOC126861440, NECAP1
(S9C)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(T196P)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 21
GBenign
LOC126861440, NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(E133G)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(D87fs)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 21
GPathogenic
NECAP1
(K160T)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(P236S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
+1 more
GUncertain significance
LOC126861440, NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GUncertain significance
LOC126861440, NECAP1
(T3S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(V237I)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(G172V)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
LOC126861440, NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
LOC126861440, NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GBenign
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Duplication
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
LOC126861440, NECAP1
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 21
GLikely benign
NECAP1
(A225G)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(S260N)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(N264D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(H126Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NECAP1
(S261C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(P73S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(K194I)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(V273A)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(P199S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(T111A)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(S34T)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(P216L)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(A116S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(P214S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
NECAP1
(Q141R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
LOC126861440, NECAP1
(P23L)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 21
GUncertain significance
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